Multisystem management in Hurler syndrome (MPS I-H)
Hurler syndrome (severe MPS I, MPS I-H) is a complex multisystem disorder. Even with HSCT and ERT, children and adults often live with significant cardiac, respiratory, skeletal, neurological, ophthalmic, audiological, gastrointestinal and psychosocial challenges. Effective care depends on coordinated, proactive multisystem management rather than isolated, single-specialty interventions.
This page outlines practical principles for organ-specific and multidisciplinary management in MPS I-H, aimed at healthcare professionals working in metabolic centres, transplant units and shared-care settings.
For healthcare professionals only. This guidance complements, but does not replace, local protocols and national/international guidelines.
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(heart, lungs, brain, bones, eyes, ears)
(heart, lungs, brain, bones, eyes, ears)
Principles of multisystem management
- Plan care within a structured MDT, anchored by a metabolic/metabolic-transplant team.
- Use regular surveillance with predefined organ-specific assessments and trigger thresholds for intervention.
- Anticipate perioperative and anaesthetic risk whenever procedures are planned in any specialty.
- Address function and quality of life alongside biomedical outcomes.
- Ensure shared documentation, including an up-to-date emergency/anaesthetic summary.
Cardiac surveillance and intervention
- Baseline echocardiogram and ECG at diagnosis/HSCT work-up.
- Regular echocardiographic surveillance tailored to age and phenotype.
- Monitor progression of valvular disease and ventricular function.
- Coordinate timing of cardiac surgery with HSCT and other procedures.
Cardiac status influences HSCT risk, anaesthetic planning and long-term functional capacity.
Airway, sleep and respiratory management
- Regular ENT review for airway obstruction and chronic otitis media.
- Baseline and periodic sleep studies to detect OSA and hypoventilation.
- Age-appropriate lung function testing where feasible.
- Senior anaesthetic review for any planned sedation or GA.
Upper airway disease is a major driver of peri-anaesthetic risk.
CNS surveillance and complications
- Regular neurodevelopmental and cognitive assessments.
- MRI brain and cervical spine when clinically indicated.
- Neurosurgical input for hydrocephalus or spinal cord compression.
- Early neurorehabilitation and therapy input.
Monitor for hydrocephalus and cervical myelopathy.
Dysostosis multiplex, spine and joints
- Baseline skeletal survey and regular orthopaedic review.
- Careful timing of spinal and hip surgery.
- Systematic pain assessment and rehabilitation.
- Orthotics and mobility aids as required.
Avoid low-value surgery; prioritise functional benefit.
Vision and hearing
- Regular ophthalmology review for corneal clouding and optic nerve involvement.
- Routine audiology assessments for mixed hearing loss.
- Early provision of hearing aids and visual support.
Vision and hearing strongly influence communication and learning.
GI, liver, spleen and growth
- Monitor hepatosplenomegaly and abdominal symptoms.
- Manage hernias with peri-anaesthetic planning.
- Dietetic input for feeding difficulties and growth optimisation.
Abdominal disease can impact respiratory mechanics.
Physical function and independence
- Physiotherapy for joint range, strength and posture.
- Occupational therapy for self-care and environmental adaptations.
- Assistive devices tailored to disease stage.
Neurodevelopmental and psychosocial support
- Regular standardised cognitive assessment.
- Psychology input for emotional and behavioural challenges.
- School liaison and individualised education planning.
Planning for surgery and procedures
- Central coordination of all planned procedures.
- Pre-anaesthetic airway, spine, cardiac and respiratory review.
- Cluster procedures where safe.
- Plan HDU/ICU availability according to risk.
Who should be involved, and how
- Metabolic/IMD team and HSCT/haematology
- Cardiology, respiratory/ENT, orthopaedics, neurology/neurosurgery
- Ophthalmology, audiology, dentistry
- Physiotherapy, OT, SALT, psychology, social work
- Specialist nurses and care coordinators
Planning for adulthood
- Begin transition planning in early adolescence.
- Identify adult metabolic and specialty services.
- Provide concise clinical summaries.
- Build self-management skills.
Key multisystem management messages
- Planned, proactive multisystem management is essential.
- Cardiac, respiratory, CNS and skeletal disease drive morbidity.
- Quality of life domains must be addressed alongside disease-modifying therapy.
- All procedures require structured perioperative risk planning.
- MDT coordination and shared documentation are critical.
Multidisciplinary care
How to organise MDT reviews and surveillance.
Long-term outcomes
Survivorship and residual morbidity.
HSCT and ERT guidance
Indications, timing and practical use.
Emergency information
High-risk situations and perioperative planning.
Living with Hurler syndrome
Patient- and family-facing resources.
Research hub
Emerging therapies and translational programmes.